Gene therapy for neurodegenerative disorders in children: dreams and realities
Arch Pediatr. 2023 Nov;30(8S1):8S32-8S40. doi: 10.1016/S0929-693X(23)00225-7.ABSTRACTGene therapy encompasses the administration of biological medicinal products containing recombinant nucleic acids, mainly DNA, with the aim of treating or curing diseases. This represents a unique therapeutic strategy to reach the brain, in order to prevent or halt a neurodegenerative process. During the past decade, active multidisciplinary research has started to solve many issues for gene therapy in neurodegenerative disorders in terms of vectors, modes of administration, and expression of the therapeutic DNA. The engineering of hematop...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Odile Boespflug-Tanguy Caroline Sevin Francoise Piguet Source Type: research
Gene therapy for neurodegenerative disorders in children: dreams and realities
Arch Pediatr. 2023 Nov;30(8S1):8S32-8S40. doi: 10.1016/S0929-693X(23)00225-7.ABSTRACTGene therapy encompasses the administration of biological medicinal products containing recombinant nucleic acids, mainly DNA, with the aim of treating or curing diseases. This represents a unique therapeutic strategy to reach the brain, in order to prevent or halt a neurodegenerative process. During the past decade, active multidisciplinary research has started to solve many issues for gene therapy in neurodegenerative disorders in terms of vectors, modes of administration, and expression of the therapeutic DNA. The engineering of hematop...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Odile Boespflug-Tanguy Caroline Sevin Francoise Piguet Source Type: research
Gene therapy in spinal muscular atrophy
Arch Pediatr. 2023 Nov;30(8S1):8S12-8S17. doi: 10.1016/S0929-693X(23)00222-1.ABSTRACTInfantile SMA is a neuromuscular disease caused by the motor neuron degeneration, depending on the age of appearance of clinical signs and the evolution of the disease, three types of decreasing severity have been defined. SMA is caused by mutations or deletions of the SMN1 gene and disease. Various therapies aimed at increasing SMN protein levels have been developed. Gene therapy is part of the therapeutic arsenal now available for the treatment of SMA under certain conditions. It uses the scAAV9 vector carrying a functional copy of SMN1 ...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Fr édérique Audic Source Type: research
Gene therapy in spinal muscular atrophy
Arch Pediatr. 2023 Nov;30(8S1):8S12-8S17. doi: 10.1016/S0929-693X(23)00222-1.ABSTRACTInfantile SMA is a neuromuscular disease caused by the motor neuron degeneration, depending on the age of appearance of clinical signs and the evolution of the disease, three types of decreasing severity have been defined. SMA is caused by mutations or deletions of the SMN1 gene and disease. Various therapies aimed at increasing SMN protein levels have been developed. Gene therapy is part of the therapeutic arsenal now available for the treatment of SMA under certain conditions. It uses the scAAV9 vector carrying a functional copy of SMN1 ...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Fr édérique Audic Source Type: research
Gene therapy for neurodegenerative disorders in children: dreams and realities
Arch Pediatr. 2023 Nov;30(8S1):8S32-8S40. doi: 10.1016/S0929-693X(23)00225-7.ABSTRACTGene therapy encompasses the administration of biological medicinal products containing recombinant nucleic acids, mainly DNA, with the aim of treating or curing diseases. This represents a unique therapeutic strategy to reach the brain, in order to prevent or halt a neurodegenerative process. During the past decade, active multidisciplinary research has started to solve many issues for gene therapy in neurodegenerative disorders in terms of vectors, modes of administration, and expression of the therapeutic DNA. The engineering of hematop...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Odile Boespflug-Tanguy Caroline Sevin Francoise Piguet Source Type: research
Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium
Spinal muscular atrophy (SMA) is an autosomal recessive disorder that affects 1 in 10,000 newborns [1,2]. SMA is linked in 95% of cases to a homozygous deletion of the SMN1 gene, the remaining 5% are caused by a heterozygous deletion and a point mutation on the other allele. Humans possess a variable number of copies of a closely related gene, SMN2 [3]. The severity of SMA depends largely on SMN2 copy number, with lower copy numbers associated with a more severe phenotype [4], but several exceptions and other genetic modifiers have been reported. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 2, 2023 Category: Neurology Authors: Tamara Dangouloff, Praveen Thokala, Matthew D Stevenson, Nicolas Deconinck, Ad èle D'Amico, Aurore Daron, Stephanie Delstanche, Laurent Servais, Mickael Hiligsmann Source Type: research
Continued safety and long-term effectiveness of onasemnogene abeparvovec in Ohio
5q spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease caused by absence of the SMN1 gene[1]. Absence of SMN1 leads to insufficient survival motor neuron protein resulting in motor neuron degeneration. This manifests as progressive weakness, muscle atrophy, bulbar and respiratory weakness. Disease severity is determined largely by SMN2 copy number because each copy allows the individual to make some survival motor neuron protein [1]. Historically, phenotype was determined by highest level of motor function achieved. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 2, 2023 Category: Neurology Authors: Megan A Waldrop, Shannon Chagat, Michael Storey, Alayne Meyer, Megan Iammarino, Natalie Reash, Lindsay Alfano, Linda Lowes, Garey Noritz, Andre Prochoroff, Ian Rossman, Matthew Ginsberg, Kathryn Mosher, Eileen Broomall, Nancy Bass, Courtney Gushue, Kavith Source Type: research
Troponin T in spinal and bulbar muscular atrophy (SBMA)
Serum biomarkers that might detect clinical progression are currently lacking for Spinal and bulbar muscular atrophy (SBMA), thus limiting the effectiveness of possible future pharmacological trials. Elevation of cardiac troponin T (cTnT) unrelated to myocardial damage in a motor neuron (MN) disease as amyotrophic lateral sclerosis (ALS) was associated to disease severity.We enrolled 47 SBMA patients and 5 Spinal muscular atrophy (SMA) type 3 adult patients as control group; each SBMA patient was evaluated at baseline and at one-year follow-up visit. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - December 1, 2023 Category: Neurology Authors: Musso Giulia, Blasi Lorenzo, Mion Monica Maria, Fortuna Andrea, Sabbatini Daniele, Zaninotto Martina, Bello Luca, Pegoraro Elena, Basso Daniela, Plebani Mario, Sorar ù Gianni Tags: Clinical short communication Source Type: research
A systematic review describing the impact of disease modifying therapies on nutrition outcomes in spinal muscular atrophy
Background: Spinal muscular atrophy (SMA) is a degenerative neuromuscular disorder with profound nutritional implications. Disease modifying therapies (DMT) have improved life expectancy and motor function. This review describes the impact of DMT on nutrition outcomes. (Source: Clinical Nutrition ESPEN)
Source: Clinical Nutrition ESPEN - December 1, 2023 Category: Nutrition Authors: Katie O ’Brien, Kay Nguo, Natassja Billich, Eppie M. Yiu, Ian R. Woodcock, Zoe E. Davidson Source Type: research
EE97 Budget Impact Analysis with and without Performance-Based Managed Entry Agreement (PBMEA) of Different Treatments for Spinal Muscular Atrophy (SMA) in the Kingdom of Saudi Arabia
This study aimed to assess the budgetary impact of introducing these treatments as a single therapy, with or without a PBMEA, for SMA types 1, 2, and 3 from the perspective of the Ministry of Health (MOH) of the Kingdom of Saudi Arabia. (Source: Value in Health)
Source: Value in Health - December 1, 2023 Category: International Medicine & Public Health Authors: A. Al Jedai, H. AL-Mudaiheem, A. AlSakran, F. Bashiri, F. Ghamdi, M. AlMuhaizae, A. AlSamman, N. Awad, R. Ojeil Source Type: research
EE89 Cost-Effectiveness Analysis of Onasemnogene Abeparvovec-Xioi (Zolgensma ®) and Best Supportive Care Treatment for Spinal Muscular Atrophy I in the Netherlands With Early-Treatment Scenario
This study aims to provide a cost-effectiveness analysis in the Netherlands for the treatment of SMA type I with OA with newly published data. (Source: Value in Health)
Source: Value in Health - December 1, 2023 Category: International Medicine & Public Health Authors: A. Meijer, A.J. Omar Alsaleh Source Type: research
EE200 Cost of Illness of Spinal Muscular Atrophy in Turkey
This study aimed to estimate the cost of treatment of SMA in Turkey with or without disease modifying treatment (DMT) per SMA type. (Source: Value in Health)
Source: Value in Health - December 1, 2023 Category: International Medicine & Public Health Authors: O. Unver, K. Uluc, A.H. Akgulle, Y. Gokdemir, E. Tutar, E. Karadag Saygi, E. Tuna, T. Gungor, C. Ulku Source Type: research
EE245 Indirect Cost of Spinal Muscular Atrophy (SMA) in Singapore
This study evaluates the societal burden of spinal muscular atrophy (SMA) by assessing the indirect costs to their families. This serves to inform policy for supporting SMA families, particularly in Singapore where reimbursement decisions prioritise the healthcare system perspective. (Source: Value in Health)
Source: Value in Health - December 1, 2023 Category: International Medicine & Public Health Authors: Z.Z. Lim, S. Tay, F. Wang, S. Ling, Y.L. Lim, Y. Wang Source Type: research
EE495 Cost of Spinal Muscular Atrophy(SMA) Management in Turkiye
Spinal muscular atrophy (SMA) is a serious neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. The aim of this study is to estimate the costs of SMA management in Turkiye. (Source: Value in Health)
Source: Value in Health - December 1, 2023 Category: International Medicine & Public Health Authors: F. Öztürk, S. Okcun, B. Tibet, G. Kockaya Source Type: research
EE648 Systematic Review of the Cost Effectiveness of Newborn Screening for Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a rare condition which causes irreversible damage to motor nerves, leading to muscle wasting/weakness. New treatments for SMA have the potential to significantly improve outcomes through earlier diagnosis and treatment. This systematic review aimed to identify and appraise the literature on the cost effectiveness of newborn screening for SMA, compared to diagnosis through clinical symptoms or family history. (Source: Value in Health)
Source: Value in Health - December 1, 2023 Category: International Medicine & Public Health Authors: K. Jordan, E. Finnegan, A. Maher, S. Dillon, L. Comber, H. O'Donnell, M. Carrigan, M. O'Neill, P. Harrington, S. Spillane, C. Teljeur, M. Ryan Source Type: research
